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PTCH2 patched 2 [ Homo sapiens (human) ]

Gene ID: 8643, updated on 25-Apr-2020

Summary

Official Symbol
PTCH2provided by HGNC
Official Full Name
patched 2provided by HGNC
Primary source
HGNC:HGNC:9586
See related
Ensembl:ENSG00000117425 MIM:603673
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PTC2
Summary
This gene encodes a transmembrane receptor of the patched gene family. The encoded protein may function as a tumor suppressor in the hedgehog signaling pathway. Alterations in this gene have been associated with nevoid basal cell carcinoma syndrome, basal cell carcinoma, medulloblastoma, and susceptibility to congenital macrostomia. Alternatively spliced transcript variants have been described.[provided by RefSeq, Oct 2009]
Expression
Biased expression in salivary gland (RPKM 12.5), testis (RPKM 11.4) and 10 other tissues See more
Orthologs

Genomic context

See PTCH2 in Genome Data Viewer
Location:
1p34.1
Exon count:
23
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (44819844..44843253, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (45285516..45309226, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene Tctex1 domain containing 4 Neighboring gene uncharacterized LOC107984952 Neighboring gene polo like kinase 3 Neighboring gene BTB domain containing 19 Neighboring gene RNA, U5E small nuclear 6, pseudogene Neighboring gene eukaryotic translation initiation factor 2B subunit gamma Neighboring gene RNA, 5S ribosomal pseudogene 47 Neighboring gene cyclin B1 interacting protein 1 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
hedgehog family protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
hedgehog family protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
hedgehog family protein binding TAS
Traceable Author Statement
more info
PubMed 
hedgehog receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
hedgehog receptor activity TAS
Traceable Author Statement
more info
PubMed 
smoothened binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
smoothened binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cell fate determination IEA
Inferred from Electronic Annotation
more info
 
epidermal cell fate specification IEA
Inferred from Electronic Annotation
more info
 
hair cycle IEA
Inferred from Electronic Annotation
more info
 
negative regulation of smoothened signaling pathway TAS
Traceable Author Statement
more info
PubMed 
positive regulation of epidermal cell differentiation IEA
Inferred from Electronic Annotation
more info
 
regulation of cell growth IMP
Inferred from Mutant Phenotype
more info
PubMed 
skin development IEA
Inferred from Electronic Annotation
more info
 
smoothened signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
protein patched homolog 2
Names
patched homolog 2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_013369.1 RefSeqGene

    Range
    5001..28101
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001166292.1NP_001159764.1  protein patched homolog 2 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (2) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AA781365, AF119569, AI798853, AY359016, BX089003
    Consensus CDS
    CCDS53312.1
    UniProtKB/Swiss-Prot
    Q9Y6C5
    Related
    ENSP00000389703.2, ENST00000447098.6
    Conserved Domains (2) summary
    TIGR00918
    Location:121142
    2A060602; The Eukaryotic (Putative) Sterol Transporter (EST) Family
    pfam12349
    Location:418570
    Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation
  2. NM_003738.5NP_003729.3  protein patched homolog 2 isoform 1

    See identical proteins and their annotated locations for NP_003729.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript and encodes the longer isoform (1).
    Source sequence(s)
    AF119569, AL136380, AL592166, AY359016
    Consensus CDS
    CCDS516.1
    UniProtKB/Swiss-Prot
    Q9Y6C5
    Related
    ENSP00000361266.3, ENST00000372192.4
    Conserved Domains (2) summary
    TIGR00918
    Location:121142
    2A060602; The Eukaryotic (Putative) Sterol Transporter (EST) Family
    pfam12349
    Location:418570
    Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    44819844..44843253 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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